Division of Human Genetics, Children's Hospital of Philadelphia, Pennsylvania, United States.
Division of Neuroradiology, Children's Hospital of Philadelphia, Pennsylvania, United States.
Neuropediatrics. 2024 Feb;55(1):71-74. doi: 10.1055/a-2052-8750. Epub 2023 Mar 13.
Subdural hemorrhages (SDHs) in the pediatric population are associated with a high mortality and morbidity and may present in the context of abusive head trauma. Diagnostic investigations for such cases often include evaluation for rare genetic and metabolic disorders that can have associated SDH. Sotos syndrome is an overgrowth syndrome associated with macrocephaly and increased subarachnoid spaces and rarely with neurovascular complications. Here, we report two cases of Sotos syndrome, one with SDH during infancy who underwent repeated evaluation for suspected child abuse prior to the Sotos syndrome diagnosis and the other with enlarged extra-axial cerebrospinal fluid spaces, demonstrating a possible mechanism for SDH development in this setting. These cases suggest that some individuals with Sotos syndrome may be at elevated risk of developing SDH in infancy and that Sotos syndrome should be on the differential diagnosis during a medical genetics evaluation in cases of unexplained SDH, especially in the setting of macrocephaly.
小儿硬膜下血肿（SDH）与高死亡率和发病率相关，可能与虐待性头部创伤有关。对于此类病例，诊断性检查通常包括评估罕见的遗传和代谢疾病，这些疾病可能与 SDH 有关。Sotos 综合征是一种过度生长综合征，与巨头畸形和蛛网膜下腔增宽有关，很少与神经血管并发症有关。在这里，我们报告了两例 Sotos 综合征病例，一例在婴儿期出现 SDH，在 Sotos 综合征诊断前反复评估疑似虐待儿童，另一例出现扩大的脑外腔隙性脑脊液空间，显示出在这种情况下 SDH 发展的可能机制。这些病例表明，一些 Sotos 综合征患者在婴儿期可能有发生 SDH 的风险增加，并且在不明原因的 SDH 情况下，特别是在巨头畸形的情况下，Sotos 综合征应作为医学遗传学评估中的鉴别诊断。
